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          VOLUME 49 / ISSUE 2


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12 - A case with Wolf-Hirschhorn syndrome

Ayşe Kartal, Betül Kılıç

Wolf-Hirschhorn syndrome (WHS) is a rare well-known genetic condition resulting from a distal deletion of the short arm of chromosome 4, is usually associated with marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, typical facial anomalies, midline defects, skeletal anomalies, hypotonia and seizures. We herein report a 16-month-old girl with severe intrauterin-growth-retardation, atypical facial anomalies, seizures and abnormal electroencephalography that was diagnosed with karyotype analysis.

Keywords: Wolf Hirschhorn syndrome, cytogenetic analysis, chromosome 4p

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